ESPE Abstracts

Background: Insulin-like Growth Factor-1 (IGF-1) is an amino acid peptide produced under the effect of Growth Hormone (GH), mostly secreted by the liver, which stimulates bone growth. IGF-1 levels have high specificity and low sensitivity for the diagnosis of Growth Hormone Deficiency (GHD). Higher IGF-1 levels are classically associated with a better response to growth hormone therapy. The aim of this study was to investigate the correlation between serum IGF...

Background: In our center for adults with rare genetic syndromes, we see adolescents and young adults with overgrowth syndromes, among others. In our 'general endocrinology' outpatient clinic, we also see patients with overgrowth, but in these cases the overgrowth is due to excess of growth hormone (GH). Our clinical impression is that the differentiation between the two is often challenging. Therefore, we believe it is important to emphasize the dif...

Introduction: X-linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia and causes rickets in children because of increased FGF23 secretion and renal phosphate wasting. Even though cranial vault an craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation (CM-I), have been observed in children with XLH, their actual incidence and character...

Gonadotropin releasing hormone (GnRH) neurons embryonically originate in nasal placode and migrate to hypothalamus, where they release GnRH to control reproduction. Defective GnRH neuron development or function leads to GnRH deficiency (GD), which is often associated to neurodevelopmental and neurological syndromes, including epilepsy, ataxia, intellectual disabilities and deafness. In addition, a register-based study showed correlation between delayed puberty and neurodevelop...

Background: Defects in growth hormone (GH) action account for a substantial percentage of endocrine causes of growth restriction but are frequently unrecognised due to wide clinical and biochemical variability. We report five probands from three families who present with short stature, features of atypical growth hormone insensitivity (GHI), immune dysfunction, atopic eczema, and gastrointestinal pathology associated with novel recessive variants in a new gene...

Genetic obesity is rare and usually affects the hunger/satiety circuit. Monogenic obesity is mainly due to variants in genes of the leptin-melanocortin pathway which regulates the control of food intake. Melanocortin 4 receptor (MC4R)-linked obesity has been reported as one of the most common forms of monogenic obesity. Mutations in the MC4R gene have been described in 2-3% of obese children and adults with variable severity of obesity and no additional phenotype. Syndromic ob...

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder caused by mutations in PHEX gene and characterized by low phosphate levels and impaired bone mineralization. Burosumab, a monoclonal antibody targeting fibroblast growth factor 23 (FGF23), has emerged as a crucial therapy for XLH management, increasing serum phosphate levels and improving bone health. Recent studies indicate that inflammation may play a crucial role in the XLH complications...

Objective: Very small embryonic/epiblast‐like stem cells (VSELs), found in human bone marrow and other adult tissues, also in circulating blood are small, non-hematopoietic cells expressing markers of pluripotent embryonic and primordial germ cells. VSELs are responsible for postnatal tissue and organ rejuvenation. It was reported that VSELs decreased after prolonged GH or IGF-1 administration in experimental animals and after prolonged IGF-1 administrati...

Background: Hypobetalipoproteinemias (HBL) is a heterogeneous group of disorders characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (ApoB). Familial hypobetalipoproteinemia (FHBL) is the most frequent monogenic form of HBL with a dominant mode of inheritance. It may be due to loss-of-function mutations in APOB or, less frequently, in other genes. Heterozygous patients are often asy...

Background: Arterial hypertension (AH) in young patients with Type 1 Diabetes (T1D) occurs more often, and at younger age than in general population. A reduction of nighttime dip value is considered as an early marker of AH risk.The aim of this study: was to identify the association between AH, and abnormal nighttime dip and diabetes-related factors: duration time and glycemic controlMethod...